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Items: 1 to 20 of 1312

1.

rs1491462850 has merged into rs869049813 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CC>-,C [Show Flanks]
    Chromosome:
    4:783826 (GRCh38)
    4:777614 (GRCh37)
    Canonical SPDI:
    NC_000004.12:783823:CCCC:CC,NC_000004.12:783823:CCCC:CCC
    Gene:
    PCGF3-AS1 (Varview), LOC124900163 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCCC=0./0 (ALFA)
    -=0.00058/1 (Korea1K)
    HGVS:
    2.

    rs1490996619 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      4:781257 (GRCh38)
      4:775045 (GRCh37)
      Canonical SPDI:
      NC_000004.12:781256:T:C
      Gene:
      PCGF3-AS1 (Varview), LOC124900163 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489999787 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        4:781193 (GRCh38)
        4:774981 (GRCh37)
        Canonical SPDI:
        NC_000004.12:781192:C:A
        Gene:
        PCGF3-AS1 (Varview), LOC124900163 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
        HGVS:
        4.

        rs1488978194 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          4:780692 (GRCh38)
          4:774480 (GRCh37)
          Canonical SPDI:
          NC_000004.12:780691:G:A
          Gene:
          PCGF3-AS1 (Varview), LOC124900163 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000015/4 (TOPMED)
          A=0.000021/3 (GnomAD)
          G=0.5/1 (SGDP_PRJ)
          HGVS:
          5.

          rs1488239585 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            4:783267 (GRCh38)
            4:777055 (GRCh37)
            Canonical SPDI:
            NC_000004.12:783266:C:T
            Gene:
            PCGF3-AS1 (Varview), LOC124900163 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1487750308 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              4:781469 (GRCh38)
              4:775257 (GRCh37)
              Canonical SPDI:
              NC_000004.12:781468:G:A
              Gene:
              PCGF3-AS1 (Varview), LOC124900163 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1487040583 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                4:781851 (GRCh38)
                4:775639 (GRCh37)
                Canonical SPDI:
                NC_000004.12:781850:G:A,NC_000004.12:781850:G:C
                Gene:
                PCGF3-AS1 (Varview), LOC124900163 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                A=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1486832221 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CCT>- [Show Flanks]
                  Chromosome:
                  4:779879 (GRCh38)
                  4:773667 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:779873:CTCCTCCT:CTCCT
                  Gene:
                  PCGF3-AS1 (Varview), LOC124900163 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CTCCT=0./0 (ALFA)
                  -=0.000007/1 (GnomAD)
                  -=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1486743499 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    4:782020 (GRCh38)
                    4:775808 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:782019:G:A
                    Gene:
                    PCGF3-AS1 (Varview), LOC124900163 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    A=0.000035/1 (TOMMO)
                    HGVS:
                    10.

                    rs1486187183 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      4:782343 (GRCh38)
                      4:776131 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:782342:C:A
                      Gene:
                      PCGF3-AS1 (Varview), LOC124900163 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1485089574 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        4:780421 (GRCh38)
                        4:774209 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:780420:C:G
                        Gene:
                        PCGF3-AS1 (Varview), LOC124900163 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1484735370 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          4:781005 (GRCh38)
                          4:774793 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:781004:G:A
                          Gene:
                          PCGF3-AS1 (Varview), LOC124900163 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1484317012 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            G>- [Show Flanks]
                            Chromosome:
                            4:781533 (GRCh38)
                            4:775321 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:781532:GGGGG:GGGG
                            Gene:
                            PCGF3-AS1 (Varview), LOC124900163 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            GGGG=0./0 (ALFA)
                            -=0.000008/2 (TOPMED)
                            -=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1483943295 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->A [Show Flanks]
                              Chromosome:
                              4:783289 (GRCh38)
                              4:777078 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:783289:AA:AAA
                              Gene:
                              PCGF3-AS1 (Varview), LOC124900163 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAA=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              A=0.000156/1 (1000Genomes)
                              HGVS:
                              15.

                              rs1483524668 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                4:783385 (GRCh38)
                                4:777173 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:783384:T:A
                                Gene:
                                PCGF3-AS1 (Varview), LOC124900163 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1482539419 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  4:783045 (GRCh38)
                                  4:776833 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:783044:G:A
                                  Gene:
                                  PCGF3-AS1 (Varview), LOC124900163 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1482340170 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    4:783684 (GRCh38)
                                    4:777472 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:783683:G:A
                                    Gene:
                                    PCGF3-AS1 (Varview), LOC124900163 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1481434160 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      4:781204 (GRCh38)
                                      4:774992 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:781203:G:A
                                      Gene:
                                      PCGF3-AS1 (Varview), LOC124900163 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000019/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1481080417 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        4:779655 (GRCh38)
                                        4:773443 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:779654:A:T
                                        Gene:
                                        PCGF3-AS1 (Varview), LOC124900163 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1480978420 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          4:781330 (GRCh38)
                                          4:775118 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:781329:C:G
                                          Gene:
                                          PCGF3-AS1 (Varview), LOC124900163 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                          HGVS:

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